P045: Hunting for pseudodeficiency: A new MPS II pseudodeficiency allele?
Abstract
Mucopolysacharidosis type II (MPS II, Hunter syndrome) is an X-linked lysosomal storage disorder (LSD) characterized by accumulation of glycosaminoglycans (GAGs). A diagnosis of MPS II in a male is confirmed by identification of a hemizygous pathogenic variant in the IDS gene and deficiency of iduronate 2-sulfatase (I2S) enzyme activity.
Fields of Study & Subjects
Lysosomal Storage Disorders Research
Glycogen Storage Diseases and Myoclonus
Metabolism and Genetic Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103536–103536
- Publication date
- 1 January 2026
- Language
- EN